UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.92718908G>A | CA466343030 | BICD2 | c.1737C>T (p.Gly579=) c.1818C>T (p.Gly606=) | gnomAD v4 |
| 9 | g.92718908G>C | CA466343032 | BICD2 | c.1737C>G (p.Gly579=) c.1818C>G (p.Gly606=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718908G= | CA1864361170 | BICD2 | c.1737C= (p.Gly579=) c.1818C= (p.Gly606=) | |
| 9 | g.92718908G>T | CA466343031 | BICD2 | c.1737C>A (p.Gly579=) c.1818C>A (p.Gly606=) | |
| 9 | g.92718909C>A | CA374036140 | BICD2 | c.1736G>T (p.Gly579Val) c.1817G>T (p.Gly606Val) | COSMIC COSMIC |
| 9 | g.92718909C= | CA1864361173 | BICD2 | c.1736G= (p.Gly579=) c.1817G= (p.Gly606=) | |
| 9 | g.92718909C>G | CA374036142 | BICD2 | c.1736G>C (p.Gly579Ala) c.1817G>C (p.Gly606Ala) | |
| 9 | g.92718909C>T | CA5126491 | BICD2 | c.1736G>A (p.Gly579Asp) c.1817G>A (p.Gly606Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718910C>A | CA374036144 | BICD2 | c.1735G>T (p.Gly579Cys) c.1816G>T (p.Gly606Cys) | |
| 9 | g.92718910C>G | CA374036146 | BICD2 | c.1735G>C (p.Gly579Arg) c.1816G>C (p.Gly606Arg) | |
| 9 | g.92718910C>T | CA374036148 | BICD2 | c.1735G>A (p.Gly579Ser) c.1816G>A (p.Gly606Ser) | |
| 9 | g.92718911A= | CA1864361176 | BICD2 | c.1734T= (p.Arg578=) c.1815T= (p.Arg605=) | |
| 9 | g.92718911A>C | CA466343035 | BICD2 | c.1734T>G (p.Arg578=) c.1815T>G (p.Arg605=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718911A>G | CA466343034 | BICD2 | c.1734T>C (p.Arg578=) c.1815T>C (p.Arg605=) | dbSNP |
| 9 | g.92718911A>T | CA466343033 | BICD2 | c.1734T>A (p.Arg578=) c.1815T>A (p.Arg605=) | |
| 9 | g.92718912C>A | CA374036150 | BICD2 | c.1733G>T (p.Arg578Leu) c.1814G>T (p.Arg605Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718912C= | CA1864361180 | BICD2 | c.1733G= (p.Arg578=) c.1814G= (p.Arg605=) | |
| 9 | g.92718912C>G | CA374036153 | BICD2 | c.1733G>C (p.Arg578Pro) c.1814G>C (p.Arg605Pro) | dbSNP |
| 9 | g.92718912C>T | CA5126492 | BICD2 | c.1733G>A (p.Arg578His) c.1814G>A (p.Arg605His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718912_92718913delinsCG | CA1864361185 | BICD2 | c.1732_1733delinsCG (p.Arg578=) c.1813_1814delinsCG (p.Arg605=) | |
| 9 | g.92718913del | CA658657873 | BICD2 | c.1732del (p.Arg578ValfsTer?) c.1813del (p.Arg605ValfsTer?) | ClinVar dbSNP |
| 9 | g.92718913G>A | CA5126493 | BICD2 | c.1732C>T (p.Arg578Cys) c.1813C>T (p.Arg605Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718913G>C | CA5126494 | BICD2 | c.1732C>G (p.Arg578Gly) c.1813C>G (p.Arg605Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718913G= | CA1864361191 | BICD2 | c.1732C= (p.Arg578=) c.1813C= (p.Arg605=) | |
| 9 | g.92718913G>T | CA374036165 | BICD2 | c.1732C>A (p.Arg578Ser) c.1813C>A (p.Arg605Ser) | |
| 9 | g.92718914C>A | CA466343036 | BICD2 | c.1731G>T (p.Ala577=) c.1812G>T (p.Ala604=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718914C= | CA1864361199 | BICD2 | c.1731G= (p.Ala577=) c.1812G= (p.Ala604=) | |
| 9 | g.92718914C>G | CA466343038 | BICD2 | c.1731G>C (p.Ala577=) c.1812G>C (p.Ala604=) | |
| 9 | g.92718914C>T | CA5126495 | BICD2 | c.1731G>A (p.Ala577=) c.1812G>A (p.Ala604=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718915G>A | CA5126496 | BICD2 | c.1730C>T (p.Ala577Val) c.1811C>T (p.Ala604Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718915G>C | CA374036167 | BICD2 | c.1730C>G (p.Ala577Gly) c.1811C>G (p.Ala604Gly) | |
| 9 | g.92718915G= | CA1864361203 | BICD2 | c.1730C= (p.Ala577=) c.1811C= (p.Ala604=) | |
| 9 | g.92718915G>T | CA374036168 | BICD2 | c.1730C>A (p.Ala577Glu) c.1811C>A (p.Ala604Glu) | gnomAD v4 |
| 9 | g.92718916C>A | CA374036169 | BICD2 | c.1729G>T (p.Ala577Ser) c.1810G>T (p.Ala604Ser) | gnomAD v4 |
| 9 | g.92718916C>G | CA374036170 | BICD2 | c.1729G>C (p.Ala577Pro) c.1810G>C (p.Ala604Pro) | |
| 9 | g.92718916C>T | CA374036171 | BICD2 | c.1729G>A (p.Ala577Thr) c.1810G>A (p.Ala604Thr) | gnomAD v4 |
| 9 | g.92718917C>A | CA374036173 | BICD2 | c.1728G>T (p.Glu576Asp) c.1809G>T (p.Glu603Asp) | |
| 9 | g.92718917C>G | CA374036175 | BICD2 | c.1728G>C (p.Glu576Asp) c.1809G>C (p.Glu603Asp) | |
| 9 | g.92718917C>T | CA466343042 | BICD2 | c.1728G>A (p.Glu576=) c.1809G>A (p.Glu603=) | gnomAD v4 |
| 9 | g.92718918T>A | CA374036181 | BICD2 | c.1727A>T (p.Glu576Val) c.1808A>T (p.Glu603Val) | |
| 9 | g.92718918T>C | CA196340249 | BICD2 | c.1727A>G (p.Glu576Gly) c.1808A>G (p.Glu603Gly) | dbSNP gnomAD v4 |
| 9 | g.92718918T>G | CA374036176 | BICD2 | c.1727A>C (p.Glu576Ala) c.1808A>C (p.Glu603Ala) | |
| 9 | g.92718918T= | CA1864361206 | BICD2 | c.1727A= (p.Glu576=) c.1808A= (p.Glu603=) | |
| 9 | g.92718918_92718936delinsTCGGGGCTGGTGCGGCCCC | CA1864361208 | BICD2 | c.1709_1727delinsGGGGCCGCACCAGCCCCGA (p.Gly570=) c.1790_1808delinsGGGGCCGCACCAGCCCCGA (p.Gly597=) | |
| 9 | g.92718919C>A | CA374036184 | BICD2 | c.1726G>T (p.Glu576Ter) c.1807G>T (p.Glu603Ter) | |
| 9 | g.92718919C>G | CA374036186 | BICD2 | c.1726G>C (p.Glu576Gln) c.1807G>C (p.Glu603Gln) | |
| 9 | g.92718919C>T | CA374036189 | BICD2 | c.1726G>A (p.Glu576Lys) c.1807G>A (p.Glu603Lys) | gnomAD v4 |
| 9 | g.92718923_92718940del | CA589579138 | BICD2 | c.1709_1726del (p.Gly570_Pro575del) c.1790_1807del (p.Gly597_Pro602del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718920G>A | CA5126497 | BICD2 | c.1725C>T (p.Pro575=) c.1806C>T (p.Pro602=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718920G>C | CA5126498 | BICD2 | c.1725C>G (p.Pro575=) c.1806C>G (p.Pro602=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718920G= | CA1864361221 | BICD2 | c.1725C= (p.Pro575=) c.1806C= (p.Pro602=) | |
| 9 | g.92718920G>T | CA466343044 | BICD2 | c.1725C>A (p.Pro575=) c.1806C>A (p.Pro602=) | gnomAD v4 |
| 9 | g.92718921G>A | CA374036195 | BICD2 | c.1724C>T (p.Pro575Leu) c.1805C>T (p.Pro602Leu) | |
| 9 | g.92718921G>C | CA374036198 | BICD2 | c.1724C>G (p.Pro575Arg) c.1805C>G (p.Pro602Arg) | |
| 9 | g.92718921G= | CA1864361229 | BICD2 | c.1724C= (p.Pro575=) c.1805C= (p.Pro602=) | |
| 9 | g.92718921G>T | CA5126499 | BICD2 | c.1724C>A (p.Pro575His) c.1805C>A (p.Pro602His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718922G>A | CA5126500 | BICD2 | c.1723C>T (p.Pro575Ser) c.1804C>T (p.Pro602Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718922G>C | CA374036200 | BICD2 | c.1723C>G (p.Pro575Ala) c.1804C>G (p.Pro602Ala) | |
| 9 | g.92718922G= | CA1864361233 | BICD2 | c.1723C= (p.Pro575=) c.1804C= (p.Pro602=) | |
| 9 | g.92718922G>T | CA374036201 | BICD2 | c.1723C>A (p.Pro575Thr) c.1804C>A (p.Pro602Thr) | gnomAD v4 |
| 9 | g.92718923G>A | CA196340312 | BICD2 | c.1722C>T (p.Ser574=) c.1803C>T (p.Ser601=) | dbSNP gnomAD v2 |
| 9 | g.92718923G>C | CA374036205 | BICD2 | c.1722C>G (p.Ser574Arg) c.1803C>G (p.Ser601Arg) | |
| 9 | g.92718923G= | CA1864361237 | BICD2 | c.1722C= (p.Ser574=) c.1803C= (p.Ser601=) | |
| 9 | g.92718923G>T | CA374036202 | BICD2 | c.1722C>A (p.Ser574Arg) c.1803C>A (p.Ser601Arg) | |
| 9 | g.92718923_92718941delinsGCTGGTGCGGCCCCCGGGA | CA1864361239 | BICD2 | c.1704_1722delinsTCCCGGGGGCCGCACCAGC (p.Ser568=) c.1785_1803delinsTCCCGGGGGCCGCACCAGC (p.Ser595=) | |
| 9 | g.92718924C>A | CA374036207 | BICD2 | c.1721G>T (p.Ser574Ile) c.1802G>T (p.Ser601Ile) | |
| 9 | g.92718924C= | CA1864361248 | BICD2 | c.1721G= (p.Ser574=) c.1802G= (p.Ser601=) | |
| 9 | g.92718924C>G | CA374036209 | BICD2 | c.1721G>C (p.Ser574Thr) c.1802G>C (p.Ser601Thr) | |
| 9 | g.92718924C>T | CA196340316 | BICD2 | c.1721G>A (p.Ser574Asn) c.1802G>A (p.Ser601Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718935_92718952dup | CA196340315 | BICD2 | c.1704_1721dup (p.Ser574_Pro575insProGlyGlyArgThrSer) c.1785_1802dup (p.Ser601_Pro602insProGlyGlyArgThrSer) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718935_92718952del | CA868524750 | BICD2 | c.1704_1721del (p.Pro569_Ser574del) c.1785_1802del (p.Pro596_Ser601del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718925T>A | CA374036212 | BICD2 | c.1720A>T (p.Ser574Cys) c.1801A>T (p.Ser601Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718925T>C | CA374036214 | BICD2 | c.1720A>G (p.Ser574Gly) c.1801A>G (p.Ser601Gly) | |
| 9 | g.92718925T>G | CA374036215 | BICD2 | c.1720A>C (p.Ser574Arg) c.1801A>C (p.Ser601Arg) | |
| 9 | g.92718926G>A | CA466343054 | BICD2 | c.1719C>T (p.Thr573=) c.1800C>T (p.Thr600=) | dbSNP gnomAD v4 |
| 9 | g.92718926G>C | CA466343056 | BICD2 | c.1719C>G (p.Thr573=) c.1800C>G (p.Thr600=) | |
| 9 | g.92718926G= | CA1864361255 | BICD2 | c.1719C= (p.Thr573=) c.1800C= (p.Thr600=) | |
| 9 | g.92718926G>T | CA466343058 | BICD2 | c.1719C>A (p.Thr573=) c.1800C>A (p.Thr600=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92718927G>A | CA374036221 | BICD2 | c.1718C>T (p.Thr573Ile) c.1799C>T (p.Thr600Ile) | gnomAD v4 |
| 9 | g.92718927G>C | CA5126501 | BICD2 | c.1718C>G (p.Thr573Ser) c.1799C>G (p.Thr600Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718927G= | CA1864361258 | BICD2 | c.1718C= (p.Thr573=) c.1799C= (p.Thr600=) | |
| 9 | g.92718927G>T | CA374036223 | BICD2 | c.1718C>A (p.Thr573Asn) c.1799C>A (p.Thr600Asn) | |
| 9 | g.92718928T>A | CA374036226 | BICD2 | c.1717A>T (p.Thr573Ser) c.1798A>T (p.Thr600Ser) | |
| 9 | g.92718928T>C | CA374036228 | BICD2 | c.1717A>G (p.Thr573Ala) c.1798A>G (p.Thr600Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718928T>G | CA374036229 | BICD2 | c.1717A>C (p.Thr573Pro) c.1798A>C (p.Thr600Pro) | gnomAD v4 |
| 9 | g.92718928T= | CA1864361262 | BICD2 | c.1717A= (p.Thr573=) c.1798A= (p.Thr600=) | |
| 9 | g.92718929G>A | CA466343062 | BICD2 | c.1716C>T (p.Arg572=) c.1797C>T (p.Arg599=) | |
| 9 | g.92718929G>C | CA466343064 | BICD2 | c.1716C>G (p.Arg572=) c.1797C>G (p.Arg599=) | |
| 9 | g.92718929G= | CA1864361268 | BICD2 | c.1716C= (p.Arg572=) c.1797C= (p.Arg599=) | |
| 9 | g.92718929G>T | CA5126502 | BICD2 | c.1716C>A (p.Arg572=) c.1797C>A (p.Arg599=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718930C>A | CA5126504 | BICD2 | c.1715G>T (p.Arg572Leu) c.1796G>T (p.Arg599Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718930C= | CA1864361275 | BICD2 | c.1715G= (p.Arg572=) c.1796G= (p.Arg599=) | |
| 9 | g.92718930C>G | CA374036231 | BICD2 | c.1715G>C (p.Arg572Pro) c.1796G>C (p.Arg599Pro) | |
| 9 | g.92718930C>T | CA5126503 | BICD2 | c.1715G>A (p.Arg572His) c.1796G>A (p.Arg599His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.92718931G>A | CA5126505 | BICD2 | c.1714C>T (p.Arg572Cys) c.1795C>T (p.Arg599Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718931G>C | CA374036234 | BICD2 | c.1714C>G (p.Arg572Gly) c.1795C>G (p.Arg599Gly) | |
| 9 | g.92718931G= | CA1864361284 | BICD2 | c.1714C= (p.Arg572=) c.1795C= (p.Arg599=) | |
| 9 | g.92718931G>T | CA374036232 | BICD2 | c.1714C>A (p.Arg572Ser) c.1795C>A (p.Arg599Ser) | gnomAD v4 |
| 9 | g.92718932G>A | CA466343066 | BICD2 | c.1713C>T (p.Gly571=) c.1794C>T (p.Gly598=) | |
| 9 | g.92718932G>C | CA5126506 | BICD2 | c.1713C>G (p.Gly571=) c.1794C>G (p.Gly598=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718932G= | CA1864361289 | BICD2 | c.1713C= (p.Gly571=) c.1794C= (p.Gly598=) | |
| 9 | g.92718932G>T | CA466343067 | BICD2 | c.1713C>A (p.Gly571=) c.1794C>A (p.Gly598=) | gnomAD v4 |
| 9 | g.92718933C>A | CA374036237 | BICD2 | c.1712G>T (p.Gly571Val) c.1793G>T (p.Gly598Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718933C= | CA1864361292 | BICD2 | c.1712G= (p.Gly571=) c.1793G= (p.Gly598=) | |
| 9 | g.92718933C>G | CA374036239 | BICD2 | c.1712G>C (p.Gly571Ala) c.1793G>C (p.Gly598Ala) | |
| 9 | g.92718933C>T | CA374036241 | BICD2 | c.1712G>A (p.Gly571Asp) c.1793G>A (p.Gly598Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718937dup | CA2579381918 | BICD2 | c.1712dup (p.Arg572ProfsTer23) c.1793dup (p.Arg599ProfsTer23) | |
| 9 | g.92718937del | CA2690686266 | BICD2 | c.1712del (p.Gly571AlafsTer?) c.1793del (p.Gly598AlafsTer?) | gnomAD v4 |
| 9 | g.92718934C>A | CA374036243 | BICD2 | c.1711G>T (p.Gly571Cys) c.1792G>T (p.Gly598Cys) | |
| 9 | g.92718934C= | CA1864361295 | BICD2 | c.1711G= (p.Gly571=) c.1792G= (p.Gly598=) | |
| 9 | g.92718934C>G | CA374036246 | BICD2 | c.1711G>C (p.Gly571Arg) c.1792G>C (p.Gly598Arg) | |
| 9 | g.92718934C>T | CA374036248 | BICD2 | c.1711G>A (p.Gly571Ser) c.1792G>A (p.Gly598Ser) | ClinVar dbSNP |
| 9 | g.92718935C>A | CA466343070 | BICD2 | c.1710G>T (p.Gly570=) c.1791G>T (p.Gly597=) | dbSNP gnomAD v4 |
| 9 | g.92718935C= | CA1864361297 | BICD2 | c.1710G= (p.Gly570=) c.1791G= (p.Gly597=) | |
| 9 | g.92718935C>G | CA466343072 | BICD2 | c.1710G>C (p.Gly570=) c.1791G>C (p.Gly597=) | |
| 9 | g.92718935C>T | CA466343074 | BICD2 | c.1710G>A (p.Gly570=) c.1791G>A (p.Gly597=) | |
| 9 | g.92718936C>A | CA374036250 | BICD2 | c.1709G>T (p.Gly570Val) c.1790G>T (p.Gly597Val) | |
| 9 | g.92718936C= | CA1864361302 | BICD2 | c.1709G= (p.Gly570=) c.1790G= (p.Gly597=) | |
| 9 | g.92718936C>G | CA374036252 | BICD2 | c.1709G>C (p.Gly570Ala) c.1790G>C (p.Gly597Ala) | |
| 9 | g.92718936C>T | CA374036254 | BICD2 | c.1709G>A (p.Gly570Glu) c.1790G>A (p.Gly597Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718937C>A | CA374036261 | BICD2 | c.1708G>T (p.Gly570Trp) c.1789G>T (p.Gly597Trp) | |
| 9 | g.92718937C= | CA1864361312 | BICD2 | c.1708G= (p.Gly570=) c.1789G= (p.Gly597=) | |
| 9 | g.92718937C>G | CA374036259 | BICD2 | c.1708G>C (p.Gly570Arg) c.1789G>C (p.Gly597Arg) | gnomAD v4 |
| 9 | g.92718937C>T | CA374036255 | BICD2 | c.1708G>A (p.Gly570Arg) c.1789G>A (p.Gly597Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718938G>A | CA5126507 | BICD2 | c.1707C>T (p.Pro569=) c.1788C>T (p.Pro596=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.92718938G>C | CA466343077 | BICD2 | c.1707C>G (p.Pro569=) c.1788C>G (p.Pro596=) | |
| 9 | g.92718938G= | CA1864361317 | BICD2 | c.1707C= (p.Pro569=) c.1788C= (p.Pro596=) | |
| 9 | g.92718938G>T | CA466343078 | BICD2 | c.1707C>A (p.Pro569=) c.1788C>A (p.Pro596=) | |
| 9 | g.92718939G>A | CA374036268 | BICD2 | c.1706C>T (p.Pro569Leu) c.1787C>T (p.Pro596Leu) | dbSNP COSMIC COSMIC |
| 9 | g.92718939G>C | CA374036271 | BICD2 | c.1706C>G (p.Pro569Arg) c.1787C>G (p.Pro596Arg) | |
| 9 | g.92718939G>T | CA374036272 | BICD2 | c.1706C>A (p.Pro569His) c.1787C>A (p.Pro596His) | gnomAD v4 |
| 9 | g.92718940G>A | CA374036275 | BICD2 | c.1705C>T (p.Pro569Ser) c.1786C>T (p.Pro596Ser) | |
| 9 | g.92718940G>C | CA196340353 | BICD2 | c.1705C>G (p.Pro569Ala) c.1786C>G (p.Pro596Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718940G= | CA1864361325 | BICD2 | c.1705C= (p.Pro569=) c.1786C= (p.Pro596=) | |
| 9 | g.92718940G>T | CA374036278 | BICD2 | c.1705C>A (p.Pro569Thr) c.1786C>A (p.Pro596Thr) | |
| 9 | g.92718941A>C | CA374036279 | BICD2 | c.1704T>G (p.Ser568Arg) c.1785T>G (p.Ser595Arg) | |
| 9 | g.92718941A>G | CA466343081 | BICD2 | c.1704T>C (p.Ser568=) c.1785T>C (p.Ser595=) | |
| 9 | g.92718941A>T | CA374036280 | BICD2 | c.1704T>A (p.Ser568Arg) c.1785T>A (p.Ser595Arg) | |
| 9 | g.92718942C>A | CA374036281 | BICD2 | c.1703G>T (p.Ser568Ile) c.1784G>T (p.Ser595Ile) | gnomAD v4 |
| 9 | g.92718942C= | CA1864361329 | BICD2 | c.1703G= (p.Ser568=) c.1784G= (p.Ser595=) | |
| 9 | g.92718942C>G | CA374036282 | BICD2 | c.1703G>C (p.Ser568Thr) c.1784G>C (p.Ser595Thr) | ClinVar dbSNP gnomAD v2 |
| 9 | g.92718942C>T | CA374036283 | BICD2 | c.1703G>A (p.Ser568Asn) c.1784G>A (p.Ser595Asn) | |
| 9 | g.92718943T>A | CA374036285 | BICD2 | c.1702A>T (p.Ser568Cys) c.1783A>T (p.Ser595Cys) | |
| 9 | g.92718943T>C | CA374036287 | BICD2 | c.1702A>G (p.Ser568Gly) c.1783A>G (p.Ser595Gly) | gnomAD v4 |
| 9 | g.92718943T>G | CA374036284 | BICD2 | c.1702A>C (p.Ser568Arg) c.1783A>C (p.Ser595Arg) | |
| 9 | g.92718944G>A | CA466343084 | BICD2 | c.1701C>T (p.Thr567=) c.1782C>T (p.Thr594=) | |
| 9 | g.92718944G>C | CA466343086 | BICD2 | c.1701C>G (p.Thr567=) c.1782C>G (p.Thr594=) | |
| 9 | g.92718944G>T | CA466343087 | BICD2 | c.1701C>A (p.Thr567=) c.1782C>A (p.Thr594=) | |
| 9 | g.92718945G>A | CA374036289 | BICD2 | c.1700C>T (p.Thr567Ile) c.1781C>T (p.Thr594Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718945G>C | CA374036291 | BICD2 | c.1700C>G (p.Thr567Ser) c.1781C>G (p.Thr594Ser) | |
| 9 | g.92718945G= | CA1864361332 | BICD2 | c.1700C= (p.Thr567=) c.1781C= (p.Thr594=) | |
| 9 | g.92718945G>T | CA374036293 | BICD2 | c.1700C>A (p.Thr567Asn) c.1781C>A (p.Thr594Asn) | |
| 9 | g.92718946T>A | CA374036295 | BICD2 | c.1699A>T (p.Thr567Ser) c.1780A>T (p.Thr594Ser) | |
| 9 | g.92718946T>C | CA374036297 | BICD2 | c.1699A>G (p.Thr567Ala) c.1780A>G (p.Thr594Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718946T>G | CA374036299 | BICD2 | c.1699A>C (p.Thr567Pro) c.1780A>C (p.Thr594Pro) | gnomAD v4 |
| 9 | g.92718946T= | CA1864361334 | BICD2 | c.1699A= (p.Thr567=) c.1780A= (p.Thr594=) | |
| 9 | g.92718947G>A | CA466343088 | BICD2 | c.1698C>T (p.Arg566=) c.1779C>T (p.Arg593=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718947G>C | CA466343089 | BICD2 | c.1698C>G (p.Arg566=) c.1779C>G (p.Arg593=) | |
| 9 | g.92718947G>T | CA466343091 | BICD2 | c.1698C>A (p.Arg566=) c.1779C>A (p.Arg593=) | |
| 9 | g.92718951_92718974del | CA2739269405 | BICD2 | c.1675_1698del (p.Glu559_Arg566del) c.1756_1779del (p.Glu586_Arg593del) | ClinVar |
| 9 | g.92718948C>A | CA5126508 | BICD2 | c.1697G>T (p.Arg566Leu) c.1778G>T (p.Arg593Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718948C= | CA1864361337 | BICD2 | c.1697G= (p.Arg566=) c.1778G= (p.Arg593=) | |
| 9 | g.92718948C>G | CA374036302 | BICD2 | c.1697G>C (p.Arg566Pro) c.1778G>C (p.Arg593Pro) | |
| 9 | g.92718948C>T | CA5126509 | BICD2 | c.1697G>A (p.Arg566His) c.1778G>A (p.Arg593His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718949G>A | CA5126510 | BICD2 | c.1696C>T (p.Arg566Cys) c.1777C>T (p.Arg593Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.92718949G>C | CA374036306 | BICD2 | c.1696C>G (p.Arg566Gly) c.1777C>G (p.Arg593Gly) | |
| 9 | g.92718949G= | CA1864361344 | BICD2 | c.1696C= (p.Arg566=) c.1777C= (p.Arg593=) | |
| 9 | g.92718949G>T | CA374036308 | BICD2 | c.1696C>A (p.Arg566Ser) c.1777C>A (p.Arg593Ser) | |
| 9 | g.92718950G>A | CA466343097 | BICD2 | c.1695C>T (p.Gly565=) c.1776C>T (p.Gly592=) | gnomAD v4 |
| 9 | g.92718950G>C | CA466343098 | BICD2 | c.1695C>G (p.Gly565=) c.1776C>G (p.Gly592=) | gnomAD v4 |
| 9 | g.92718950G>T | CA466343096 | BICD2 | c.1695C>A (p.Gly565=) c.1776C>A (p.Gly592=) | gnomAD v4 |
| 9 | g.92718951C>A | CA374036312 | BICD2 | c.1694G>T (p.Gly565Val) c.1775G>T (p.Gly592Val) | |
| 9 | g.92718951C>G | CA374036314 | BICD2 | c.1694G>C (p.Gly565Ala) c.1775G>C (p.Gly592Ala) | |
| 9 | g.92718951C>T | CA374036310 | BICD2 | c.1694G>A (p.Gly565Asp) c.1775G>A (p.Gly592Asp) | gnomAD v4 |
| 9 | g.92718952C>A | CA374036316 | BICD2 | c.1693G>T (p.Gly565Cys) c.1774G>T (p.Gly592Cys) | |
| 9 | g.92718952C= | CA1864361349 | BICD2 | c.1693G= (p.Gly565=) c.1774G= (p.Gly592=) | |
| 9 | g.92718952C>G | CA374036318 | BICD2 | c.1693G>C (p.Gly565Arg) c.1774G>C (p.Gly592Arg) | |
| 9 | g.92718952C>T | CA374036319 | BICD2 | c.1693G>A (p.Gly565Ser) c.1774G>A (p.Gly592Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718953G>A | CA5126511 | BICD2 | c.1692C>T (p.Ala564=) c.1773C>T (p.Ala591=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718953G>C | CA466343105 | BICD2 | c.1692C>G (p.Ala564=) c.1773C>G (p.Ala591=) | gnomAD v4 |
| 9 | g.92718953G= | CA1864361353 | BICD2 | c.1692C= (p.Ala564=) c.1773C= (p.Ala591=) | |
| 9 | g.92718953G>T | CA466343107 | BICD2 | c.1692C>A (p.Ala564=) c.1773C>A (p.Ala591=) | |
| 9 | g.92718954G>A | CA374036327 | BICD2 | c.1691C>T (p.Ala564Val) c.1772C>T (p.Ala591Val) | |
| 9 | g.92718954G>C | CA374036325 | BICD2 | c.1691C>G (p.Ala564Gly) c.1772C>G (p.Ala591Gly) | |
| 9 | g.92718954G>T | CA374036324 | BICD2 | c.1691C>A (p.Ala564Asp) c.1772C>A (p.Ala591Asp) | |
| 9 | g.92718955C>A | CA374036329 | BICD2 | c.1690G>T (p.Ala564Ser) c.1771G>T (p.Ala591Ser) | |
| 9 | g.92718955C>G | CA374036331 | BICD2 | c.1690G>C (p.Ala564Pro) c.1771G>C (p.Ala591Pro) | |
| 9 | g.92718955C>T | CA374036333 | BICD2 | c.1690G>A (p.Ala564Thr) c.1771G>A (p.Ala591Thr) | |
| 9 | g.92718958del | CA2690686267 | BICD2 | c.1690del (p.Ala564ProfsTer?) c.1771del (p.Ala591ProfsTer?) | gnomAD v4 |
| 9 | g.92718956C>A | CA466343110 | BICD2 | c.1689G>T (p.Gly563=) c.1770G>T (p.Gly590=) | gnomAD v4 |
| 9 | g.92718956C>G | CA466343112 | BICD2 | c.1689G>C (p.Gly563=) c.1770G>C (p.Gly590=) | |
| 9 | g.92718956C>T | CA466343111 | BICD2 | c.1689G>A (p.Gly563=) c.1770G>A (p.Gly590=) | |
| 9 | g.92718957C>A | CA374036334 | BICD2 | c.1688G>T (p.Gly563Val) c.1769G>T (p.Gly590Val) | |
| 9 | g.92718957C= | CA1864361356 | BICD2 | c.1688G= (p.Gly563=) c.1769G= (p.Gly590=) | |
| 9 | g.92718957C>G | CA374036335 | BICD2 | c.1688G>C (p.Gly563Ala) c.1769G>C (p.Gly590Ala) | |
| 9 | g.92718957C>T | CA374036337 | BICD2 | c.1688G>A (p.Gly563Glu) c.1769G>A (p.Gly590Glu) | ClinVar dbSNP |
| 9 | g.92718958C>A | CA374036340 | BICD2 | c.1687G>T (p.Gly563Trp) c.1768G>T (p.Gly590Trp) | |
| 9 | g.92718958C= | CA1864361360 | BICD2 | c.1687G= (p.Gly563=) c.1768G= (p.Gly590=) | |
| 9 | g.92718958C>G | CA374036339 | BICD2 | c.1687G>C (p.Gly563Arg) c.1768G>C (p.Gly590Arg) | |
| 9 | g.92718958C>T | CA196340391 | BICD2 | c.1687G>A (p.Gly563Arg) c.1768G>A (p.Gly590Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718959G>A | CA5126512 | BICD2 | c.1686C>T (p.Gly562=) c.1767C>T (p.Gly589=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.92718959G>C | CA466343115 | BICD2 | c.1686C>G (p.Gly562=) c.1767C>G (p.Gly589=) | |
| 9 | g.92718959G= | CA1864361367 | BICD2 | c.1686C= (p.Gly562=) c.1767C= (p.Gly589=) | |
| 9 | g.92718959G>T | CA466343116 | BICD2 | c.1686C>A (p.Gly562=) c.1767C>A (p.Gly589=) | |
| 9 | g.92718960C>A | CA374036347 | BICD2 | c.1685G>T (p.Gly562Val) c.1766G>T (p.Gly589Val) | |
| 9 | g.92718960C>G | CA374036343 | BICD2 | c.1685G>C (p.Gly562Ala) c.1766G>C (p.Gly589Ala) | |
| 9 | g.92718960C>T | CA374036345 | BICD2 | c.1685G>A (p.Gly562Asp) c.1766G>A (p.Gly589Asp) | |
| 9 | g.92718961C>A | CA374036349 | BICD2 | c.1684G>T (p.Gly562Cys) c.1765G>T (p.Gly589Cys) | |
| 9 | g.92718961C>G | CA374036350 | BICD2 | c.1684G>C (p.Gly562Arg) c.1765G>C (p.Gly589Arg) | |
| 9 | g.92718961C>T | CA374036352 | BICD2 | c.1684G>A (p.Gly562Ser) c.1765G>A (p.Gly589Ser) | COSMIC COSMIC |
| 9 | g.92718961_92718964dup | CA2690686268 | BICD2 | c.1681_1684dup (p.Gly562AlafsTer?) c.1762_1765dup (p.Gly589AlafsTer?) | gnomAD v4 |
| 9 | g.92718962C>A | CA374036355 | BICD2 | c.1683G>T (p.Gln561His) c.1764G>T (p.Gln588His) | |
| 9 | g.92718962C= | CA1864361370 | BICD2 | c.1683G= (p.Gln561=) c.1764G= (p.Gln588=) | |
| 9 | g.92718962C>G | CA374036357 | BICD2 | c.1683G>C (p.Gln561His) c.1764G>C (p.Gln588His) | |
| 9 | g.92718962C>T | CA5126513 | BICD2 | c.1683G>A (p.Gln561=) c.1764G>A (p.Gln588=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718963T>A | CA374036361 | BICD2 | c.1682A>T (p.Gln561Leu) c.1763A>T (p.Gln588Leu) | |
| 9 | g.92718963T>C | CA374036363 | BICD2 | c.1682A>G (p.Gln561Arg) c.1763A>G (p.Gln588Arg) | |
| 9 | g.92718963T>G | CA374036365 | BICD2 | c.1682A>C (p.Gln561Pro) c.1763A>C (p.Gln588Pro) | |
| 9 | g.92718964G>A | CA374036367 | BICD2 | c.1681C>T (p.Gln561Ter) c.1762C>T (p.Gln588Ter) | gnomAD v4 |
| 9 | g.92718964G>C | CA374036368 | BICD2 | c.1681C>G (p.Gln561Glu) c.1762C>G (p.Gln588Glu) | |
| 9 | g.92718964G>T | CA374036370 | BICD2 | c.1681C>A (p.Gln561Lys) c.1762C>A (p.Gln588Lys) | |
| 9 | g.92718965G>A | CA5126514 | BICD2 | c.1680C>T (p.Gly560=) c.1761C>T (p.Gly587=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718965G>C | CA466343123 | BICD2 | c.1680C>G (p.Gly560=) c.1761C>G (p.Gly587=) | gnomAD v4 |
| 9 | g.92718965G= | CA1864361375 | BICD2 | c.1680C= (p.Gly560=) c.1761C= (p.Gly587=) | |
| 9 | g.92718965G>T | CA466343124 | BICD2 | c.1680C>A (p.Gly560=) c.1761C>A (p.Gly587=) | gnomAD v4 |
| 9 | g.92718966C>A | CA374036374 | BICD2 | c.1679G>T (p.Gly560Val) c.1760G>T (p.Gly587Val) | gnomAD v4 |
| 9 | g.92718966C= | CA1864361381 | BICD2 | c.1679G= (p.Gly560=) c.1760G= (p.Gly587=) | |
| 9 | g.92718966C>G | CA374036375 | BICD2 | c.1679G>C (p.Gly560Ala) c.1760G>C (p.Gly587Ala) | |
| 9 | g.92718966C>T | CA5126515 | BICD2 | c.1679G>A (p.Gly560Asp) c.1760G>A (p.Gly587Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718967C>A | CA374036377 | BICD2 | c.1678G>T (p.Gly560Cys) c.1759G>T (p.Gly587Cys) | |
| 9 | g.92718967C>G | CA374036379 | BICD2 | c.1678G>C (p.Gly560Arg) c.1759G>C (p.Gly587Arg) | |
| 9 | g.92718967C>T | CA374036381 | BICD2 | c.1678G>A (p.Gly560Ser) c.1759G>A (p.Gly587Ser) | gnomAD v4 |
| 9 | g.92718968C>A | CA374036383 | BICD2 | c.1677G>T (p.Glu559Asp) c.1758G>T (p.Glu586Asp) | |
| 9 | g.92718968C>G | CA374036384 | BICD2 | c.1677G>C (p.Glu559Asp) c.1758G>C (p.Glu586Asp) | |
| 9 | g.92718968C>T | CA466343130 | BICD2 | c.1677G>A (p.Glu559=) c.1758G>A (p.Glu586=) | |
| 9 | g.92718969T>A | CA374036387 | BICD2 | c.1676A>T (p.Glu559Val) c.1757A>T (p.Glu586Val) | |
| 9 | g.92718969T>C | CA374036389 | BICD2 | c.1676A>G (p.Glu559Gly) c.1757A>G (p.Glu586Gly) | dbSNP |
| 9 | g.92718969T>G | CA374036391 | BICD2 | c.1676A>C (p.Glu559Ala) c.1757A>C (p.Glu586Ala) | |
| 9 | g.92718969T= | CA1864361384 | BICD2 | c.1676A= (p.Glu559=) c.1757A= (p.Glu586=) | |
| 9 | g.92718970C>A | CA374036393 | BICD2 | c.1675G>T (p.Glu559Ter) c.1756G>T (p.Glu586Ter) | |
| 9 | g.92718970C= | CA1864361386 | BICD2 | c.1675G= (p.Glu559=) c.1756G= (p.Glu586=) | |
| 9 | g.92718970C>G | CA374036395 | BICD2 | c.1675G>C (p.Glu559Gln) c.1756G>C (p.Glu586Gln) | gnomAD v4 |
| 9 | g.92718970C>T | CA5126516 | BICD2 | c.1675G>A (p.Glu559Lys) c.1756G>A (p.Glu586Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718971G>A | CA5126517 | BICD2 | c.1674C>T (p.Arg558=) c.1755C>T (p.Arg585=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718971G>C | CA466343135 | BICD2 | c.1674C>G (p.Arg558=) c.1755C>G (p.Arg585=) | |
| 9 | g.92718971G= | CA1864361391 | BICD2 | c.1674C= (p.Arg558=) c.1755C= (p.Arg585=) | |
| 9 | g.92718971G>T | CA5126518 | BICD2 | c.1674C>A (p.Arg558=) c.1755C>A (p.Arg585=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718972C>A | CA374036398 | BICD2 | c.1673G>T (p.Arg558Leu) c.1754G>T (p.Arg585Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718972C= | CA1864361402 | BICD2 | c.1673G= (p.Arg558=) c.1754G= (p.Arg585=) | |
| 9 | g.92718972C>G | CA374036401 | BICD2 | c.1673G>C (p.Arg558Pro) c.1754G>C (p.Arg585Pro) | ClinVar dbSNP |
| 9 | g.92718972C>T | CA374036403 | BICD2 | c.1673G>A (p.Arg558His) c.1754G>A (p.Arg585His) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718973G>A | CA374036405 | BICD2 | c.1672C>T (p.Arg558Cys) c.1753C>T (p.Arg585Cys) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92718973G>C | CA374036407 | BICD2 | c.1672C>G (p.Arg558Gly) c.1753C>G (p.Arg585Gly) | |
| 9 | g.92718973G= | CA1864361406 | BICD2 | c.1672C= (p.Arg558=) c.1753C= (p.Arg585=) | |
| 9 | g.92718973G>T | CA374036409 | BICD2 | c.1672C>A (p.Arg558Ser) c.1753C>A (p.Arg585Ser) | dbSNP gnomAD v4 |
| 9 | g.92718974G>A | CA466343140 | BICD2 | c.1671C>T (p.Tyr557=) c.1752C>T (p.Tyr584=) | |
| 9 | g.92718974G>C | CA5126519 | BICD2 | c.1671C>G (p.Tyr557Ter) c.1752C>G (p.Tyr584Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718974G= | CA1864361410 | BICD2 | c.1671C= (p.Tyr557=) c.1752C= (p.Tyr584=) | |
| 9 | g.92718974G>T | CA374036412 | BICD2 | c.1671C>A (p.Tyr557Ter) c.1752C>A (p.Tyr584Ter) | |
| 9 | g.92718975T>A | CA374036414 | BICD2 | c.1670A>T (p.Tyr557Phe) c.1751A>T (p.Tyr584Phe) | |
| 9 | g.92718975T>C | CA374036416 | BICD2 | c.1670A>G (p.Tyr557Cys) c.1751A>G (p.Tyr584Cys) | |
| 9 | g.92718975T>G | CA374036418 | BICD2 | c.1670A>C (p.Tyr557Ser) c.1751A>C (p.Tyr584Ser) | |
| 9 | g.92718976A>C | CA374036420 | BICD2 | c.1669T>G (p.Tyr557Asp) c.1750T>G (p.Tyr584Asp) | |
| 9 | g.92718976A>G | CA374036422 | BICD2 | c.1669T>C (p.Tyr557His) c.1750T>C (p.Tyr584His) | |
| 9 | g.92718976A>T | CA374036424 | BICD2 | c.1669T>A (p.Tyr557Asn) c.1750T>A (p.Tyr584Asn) | |
| 9 | g.92718977G>A | CA466343145 | BICD2 | c.1668C>T (p.Tyr556=) c.1749C>T (p.Tyr583=) | |
| 9 | g.92718977G>C | CA374036427 | BICD2 | c.1668C>G (p.Tyr556Ter) c.1749C>G (p.Tyr583Ter) | |
| 9 | g.92718977G>T | CA374036426 | BICD2 | c.1668C>A (p.Tyr556Ter) c.1749C>A (p.Tyr583Ter) | |
| 9 | g.92718978T>A | CA374036429 | BICD2 | c.1667A>T (p.Tyr556Phe) c.1748A>T (p.Tyr583Phe) | |
| 9 | g.92718978T>C | CA374036430 | BICD2 | c.1667A>G (p.Tyr556Cys) c.1748A>G (p.Tyr583Cys) | ClinVar dbSNP |
| 9 | g.92718978T>G | CA374036431 | BICD2 | c.1667A>C (p.Tyr556Ser) c.1748A>C (p.Tyr583Ser) | ClinVar dbSNP |
| 9 | g.92718978T= | CA1864361422 | BICD2 | c.1667A= (p.Tyr556=) c.1748A= (p.Tyr583=) | |
| 9 | g.92718979A>C | CA374036433 | BICD2 | c.1666T>G (p.Tyr556Asp) c.1747T>G (p.Tyr583Asp) | |
| 9 | g.92718979A>G | CA374036435 | BICD2 | c.1666T>C (p.Tyr556His) c.1747T>C (p.Tyr583His) | |
| 9 | g.92718979A>T | CA374036437 | BICD2 | c.1666T>A (p.Tyr556Asn) c.1747T>A (p.Tyr583Asn) | |
| 9 | g.92718980G>A | CA466343153 | BICD2 | c.1665C>T (p.Asp555=) c.1746C>T (p.Asp582=) | |
| 9 | g.92718980G>C | CA374036440 | BICD2 | c.1665C>G (p.Asp555Glu) c.1746C>G (p.Asp582Glu) | |
| 9 | g.92718980G>T | CA374036438 | BICD2 | c.1665C>A (p.Asp555Glu) c.1746C>A (p.Asp582Glu) | |
| 9 | g.92718981T>A | CA374036443 | BICD2 | c.1664A>T (p.Asp555Val) c.1745A>T (p.Asp582Val) | |
| 9 | g.92718981T>C | CA374036445 | BICD2 | c.1664A>G (p.Asp555Gly) c.1745A>G (p.Asp582Gly) | |
| 9 | g.92718981T>G | CA374036447 | BICD2 | c.1664A>C (p.Asp555Ala) c.1745A>C (p.Asp582Ala) | |
| 9 | g.92718982C>A | CA374036450 | BICD2 | c.1663G>T (p.Asp555Tyr) c.1744G>T (p.Asp582Tyr) | gnomAD v4 |
| 9 | g.92718982C>G | CA374036453 | BICD2 | c.1663G>C (p.Asp555His) c.1744G>C (p.Asp582His) | |
| 9 | g.92718982C>T | CA374036455 | BICD2 | c.1663G>A (p.Asp555Asn) c.1744G>A (p.Asp582Asn) | |
| 9 | g.92718983C>A | CA466343154 | BICD2 | c.1662G>T (p.Leu554=) c.1743G>T (p.Leu581=) | |
| 9 | g.92718983C= | CA1864361424 | BICD2 | c.1662G= (p.Leu554=) c.1743G= (p.Leu581=) | |
| 9 | g.92718983C>G | CA466343155 | BICD2 | c.1662G>C (p.Leu554=) c.1743G>C (p.Leu581=) | |
| 9 | g.92718983C>T | CA466343156 | BICD2 | c.1662G>A (p.Leu554=) c.1743G>A (p.Leu581=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718984A>C | CA374036464 | BICD2 | c.1661T>G (p.Leu554Arg) c.1742T>G (p.Leu581Arg) | |
| 9 | g.92718984A>G | CA374036458 | BICD2 | c.1661T>C (p.Leu554Pro) c.1742T>C (p.Leu581Pro) | |
| 9 | g.92718984A>T | CA374036461 | BICD2 | c.1661T>A (p.Leu554Gln) c.1742T>A (p.Leu581Gln) | |
| 9 | g.92718985G>A | CA466343159 | BICD2 | c.1660C>T (p.Leu554=) c.1741C>T (p.Leu581=) | |
| 9 | g.92718985G>C | CA374036466 | BICD2 | c.1660C>G (p.Leu554Val) c.1741C>G (p.Leu581Val) | |
| 9 | g.92718985G>T | CA374036468 | BICD2 | c.1660C>A (p.Leu554Met) c.1741C>A (p.Leu581Met) | gnomAD v4 |
| 9 | g.92718986C>A | CA374036471 | BICD2 | c.1659G>T (p.Met553Ile) c.1740G>T (p.Met580Ile) | |
| 9 | g.92718986C= | CA1864361431 | BICD2 | c.1659G= (p.Met553=) c.1740G= (p.Met580=) | |
| 9 | g.92718986C>G | CA374036473 | BICD2 | c.1659G>C (p.Met553Ile) c.1740G>C (p.Met580Ile) | |
| 9 | g.92718986C>T | CA5126520 | BICD2 | c.1659G>A (p.Met553Ile) c.1740G>A (p.Met580Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718987A>C | CA374036479 | BICD2 | c.1658T>G (p.Met553Arg) c.1739T>G (p.Met580Arg) | ClinVar |
| 9 | g.92718987A>G | CA374036482 | BICD2 | c.1658T>C (p.Met553Thr) c.1739T>C (p.Met580Thr) | |
| 9 | g.92718987A>T | CA374036485 | BICD2 | c.1658T>A (p.Met553Lys) c.1739T>A (p.Met580Lys) | |
| 9 | g.92718988T>A | CA374036488 | BICD2 | c.1657A>T (p.Met553Leu) c.1738A>T (p.Met580Leu) | |
| 9 | g.92718988T>C | CA374036490 | BICD2 | c.1657A>G (p.Met553Val) c.1738A>G (p.Met580Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718988T>G | CA374036493 | BICD2 | c.1657A>C (p.Met553Leu) c.1738A>C (p.Met580Leu) | |
| 9 | g.92718988T= | CA1864361434 | BICD2 | c.1657A= (p.Met553=) c.1738A= (p.Met580=) | |
| 9 | g.92718989G>A | CA466343167 | BICD2 | c.1656C>T (p.Val552=) c.1737C>T (p.Val579=) | |
| 9 | g.92718989G>C | CA466343166 | BICD2 | c.1656C>G (p.Val552=) c.1737C>G (p.Val579=) | |
| 9 | g.92718989G>T | CA466343164 | BICD2 | c.1656C>A (p.Val552=) c.1737C>A (p.Val579=) | gnomAD v4 |
| 9 | g.92718990A>C | CA374036496 | BICD2 | c.1655T>G (p.Val552Gly) c.1736T>G (p.Val579Gly) | |
| 9 | g.92718990A>G | CA374036499 | BICD2 | c.1655T>C (p.Val552Ala) c.1736T>C (p.Val579Ala) | ClinVar |
| 9 | g.92718990A>T | CA374036500 | BICD2 | c.1655T>A (p.Val552Asp) c.1736T>A (p.Val579Asp) | |
| 9 | g.92718991C>A | CA374036511 | BICD2 | c.1654G>T (p.Val552Phe) c.1735G>T (p.Val579Phe) | |
| 9 | g.92718991C>G | CA374036508 | BICD2 | c.1654G>C (p.Val552Leu) c.1735G>C (p.Val579Leu) | |
| 9 | g.92718991C>T | CA374036505 | BICD2 | c.1654G>A (p.Val552Ile) c.1735G>A (p.Val579Ile) | |
| 9 | g.92718992A>C | CA466343174 | BICD2 | c.1653T>G (p.Arg551=) c.1734T>G (p.Arg578=) | |
| 9 | g.92718992A>G | CA466343175 | BICD2 | c.1653T>C (p.Arg551=) c.1734T>C (p.Arg578=) | |
| 9 | g.92718992A>T | CA466343176 | BICD2 | c.1653T>A (p.Arg551=) c.1734T>A (p.Arg578=) | |
| 9 | g.92718993C>A | CA374036514 | BICD2 | c.1652G>T (p.Arg551Leu) c.1733G>T (p.Arg578Leu) | |
| 9 | g.92718993C>G | CA374036516 | BICD2 | c.1652G>C (p.Arg551Pro) c.1733G>C (p.Arg578Pro) | |
| 9 | g.92718993C>T | CA374036518 | BICD2 | c.1652G>A (p.Arg551His) c.1733G>A (p.Arg578His) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92718994G>A | CA374036523 | BICD2 | c.1651C>T (p.Arg551Cys) c.1732C>T (p.Arg578Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.92718994G>C | CA374036526 | BICD2 | c.1651C>G (p.Arg551Gly) c.1732C>G (p.Arg578Gly) | |
| 9 | g.92718994G= | CA1864361437 | BICD2 | c.1651C= (p.Arg551=) c.1732C= (p.Arg578=) | |
| 9 | g.92718994G>T | CA374036529 | BICD2 | c.1651C>A (p.Arg551Ser) c.1732C>A (p.Arg578Ser) | |
| 9 | g.92718995G>A | CA466343180 | BICD2 | c.1650C>T (p.Asn550=) c.1731C>T (p.Asn577=) | |
| 9 | g.92718995G>C | CA374036531 | BICD2 | c.1650C>G (p.Asn550Lys) c.1731C>G (p.Asn577Lys) | |
| 9 | g.92718995G>T | CA374036534 | BICD2 | c.1650C>A (p.Asn550Lys) c.1731C>A (p.Asn577Lys) | |
| 9 | g.92718996T>A | CA374036537 | BICD2 | c.1649A>T (p.Asn550Ile) c.1730A>T (p.Asn577Ile) | |
| 9 | g.92718996T>C | CA5126521 | BICD2 | c.1649A>G (p.Asn550Ser) c.1730A>G (p.Asn577Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718996T>G | CA374036540 | BICD2 | c.1649A>C (p.Asn550Thr) c.1730A>C (p.Asn577Thr) | |
| 9 | g.92718996T= | CA1864361439 | BICD2 | c.1649A= (p.Asn550=) c.1730A= (p.Asn577=) | |
| 9 | g.92718997T>A | CA374036543 | BICD2 | c.1648A>T (p.Asn550Tyr) c.1729A>T (p.Asn577Tyr) | |
| 9 | g.92718997T>C | CA374036546 | BICD2 | c.1648A>G (p.Asn550Asp) c.1729A>G (p.Asn577Asp) | |
| 9 | g.92718997T>G | CA374036548 | BICD2 | c.1648A>C (p.Asn550His) c.1729A>C (p.Asn577His) | |
| 9 | g.92718998G>A | CA466343185 | BICD2 | c.1647C>T (p.Pro549=) c.1728C>T (p.Pro576=) | |
| 9 | g.92718998G>C | CA466343186 | BICD2 | c.1647C>G (p.Pro549=) c.1728C>G (p.Pro576=) | |
| 9 | g.92718998G>T | CA466343187 | BICD2 | c.1647C>A (p.Pro549=) c.1728C>A (p.Pro576=) | |
| 9 | g.92718999G>A | CA16618868 | BICD2 | c.1646C>T (p.Pro549Leu) c.1727C>T (p.Pro576Leu) | ClinVar dbSNP |
| 9 | g.92718999G>C | CA374036557 | BICD2 | c.1646C>G (p.Pro549Arg) c.1727C>G (p.Pro576Arg) | |
| 9 | g.92718999G= | CA1864361445 | BICD2 | c.1646C= (p.Pro549=) c.1727C= (p.Pro576=) | |
| 9 | g.92718999G>T | CA374036552 | BICD2 | c.1646C>A (p.Pro549His) c.1727C>A (p.Pro576His) | |
| 9 | g.92719000G>A | CA374036560 | BICD2 | c.1645C>T (p.Pro549Ser) c.1726C>T (p.Pro576Ser) | |
| 9 | g.92719000G>C | CA374036563 | BICD2 | c.1645C>G (p.Pro549Ala) c.1726C>G (p.Pro576Ala) | |
| 9 | g.92719000G>T | CA374036565 | BICD2 | c.1645C>A (p.Pro549Thr) c.1726C>A (p.Pro576Thr) | |
| 9 | g.92719001T>A | CA466343190 | BICD2 | c.1644A>T (p.Thr548=) c.1725A>T (p.Thr575=) | |
| 9 | g.92719001T>C | CA466343191 | BICD2 | c.1644A>G (p.Thr548=) c.1725A>G (p.Thr575=) | gnomAD v4 |
| 9 | g.92719001T>G | CA466343192 | BICD2 | c.1644A>C (p.Thr548=) c.1725A>C (p.Thr575=) | |
| 9 | g.92719002G>A | CA374036568 | BICD2 | c.1643C>T (p.Thr548Ile) c.1724C>T (p.Thr575Ile) | dbSNP |
| 9 | g.92719002G>C | CA374036571 | BICD2 | c.1643C>G (p.Thr548Arg) c.1724C>G (p.Thr575Arg) | |
| 9 | g.92719002G= | CA1864361452 | BICD2 | c.1643C= (p.Thr548=) c.1724C= (p.Thr575=) | |
| 9 | g.92719002G>T | CA374036574 | BICD2 | c.1643C>A (p.Thr548Lys) c.1724C>A (p.Thr575Lys) | |
| 9 | g.92719003T>A | CA374036582 | BICD2 | c.1642A>T (p.Thr548Ser) c.1723A>T (p.Thr575Ser) | |
| 9 | g.92719003T>C | CA374036578 | BICD2 | c.1642A>G (p.Thr548Ala) c.1723A>G (p.Thr575Ala) | |
| 9 | g.92719003T>G | CA374036580 | BICD2 | c.1642A>C (p.Thr548Pro) c.1723A>C (p.Thr575Pro) | |
| 9 | g.92719004C>A | CA374036584 | BICD2 | c.1641G>T (p.Glu547Asp) c.1722G>T (p.Glu574Asp) | |
| 9 | g.92719004C>G | CA374036587 | BICD2 | c.1641G>C (p.Glu547Asp) c.1722G>C (p.Glu574Asp) | |
| 9 | g.92719004C>T | CA466343195 | BICD2 | c.1641G>A (p.Glu547=) c.1722G>A (p.Glu574=) | |
| 9 | g.92719005T>A | CA374036589 | BICD2 | c.1640A>T (p.Glu547Val) c.1721A>T (p.Glu574Val) | |
| 9 | g.92719005T>C | CA374036591 | BICD2 | c.1640A>G (p.Glu547Gly) c.1721A>G (p.Glu574Gly) | |
| 9 | g.92719005T>G | CA374036592 | BICD2 | c.1640A>C (p.Glu547Ala) c.1721A>C (p.Glu574Ala) | |
| 9 | g.92719006C>A | CA374036595 | BICD2 | c.1639G>T (p.Glu547Ter) c.1720G>T (p.Glu574Ter) | gnomAD v4 |
| 9 | g.92719006C>G | CA374036598 | BICD2 | c.1639G>C (p.Glu547Gln) c.1720G>C (p.Glu574Gln) | |
| 9 | g.92719006C>T | CA374036596 | BICD2 | c.1639G>A (p.Glu547Lys) c.1720G>A (p.Glu574Lys) | |
| 9 | g.92719006_92719009delinsCATT | CA1864361457 | BICD2 | c.1636_1639delinsAATG (p.Asn546=) c.1717_1720delinsAATG (p.Asn573=) | |
| 9 | g.92719007A>C | CA374036601 | BICD2 | c.1638T>G (p.Asn546Lys) c.1719T>G (p.Asn573Lys) | gnomAD v4 |
| 9 | g.92719007A>G | CA466343196 | BICD2 | c.1638T>C (p.Asn546=) c.1719T>C (p.Asn573=) | gnomAD v4 |
| 9 | g.92719007A>T | CA374036602 | BICD2 | c.1638T>A (p.Asn546Lys) c.1719T>A (p.Asn573Lys) | |
| 9 | g.92719007_92719009del | CA16618869 | BICD2 | c.1636_1638del (p.Asn546del) c.1717_1719del (p.Asn573del) | ClinVar dbSNP |
| 9 | g.92719008T>A | CA374036603 | BICD2 | c.1637A>T (p.Asn546Ile) c.1718A>T (p.Asn573Ile) | |
| 9 | g.92719008T>C | CA374036604 | BICD2 | c.1637A>G (p.Asn546Ser) c.1718A>G (p.Asn573Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.92719008T>G | CA374036606 | BICD2 | c.1637A>C (p.Asn546Thr) c.1718A>C (p.Asn573Thr) | |
| 9 | g.92719008T= | CA1864361466 | BICD2 | c.1637A= (p.Asn546=) c.1718A= (p.Asn573=) |